Article
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.
Disease models & mechanisms - 1 Nov 2012
Martelli Alain, Friedman Lisa S, Reutenauer Laurence, Messaddeq Nadia, Perlman Susan L, Lynch David R, Fedosov Kathrin, Schulz Jörg B, Pandolfo Massimo, Puccio Hélène
Abstract excerpt
Friedreich's ataxia (FRDA) is the most common hereditary ataxia in the caucasian population and is characterized by a mixed spinocerebellar and sensory ataxia, hypertrophic cardiomyopathy and increased incidence of diabetes. FRDA is caused by impaired expression of the FXN gene coding for the mitochondrial protein frataxin. During the past ten years, the development of mouse models of FRDA has allowed better...
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